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Q9Y672 (ALG6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase

EC=2.4.1.267
Alternative name(s):
Asparagine-linked glycosylation protein 6 homolog
Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase
Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase
Gene names
Name:ALG6
ORF Names:My046
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length507 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Adds the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Man9GlcNAc(2)-PP-Dol.

Catalytic activity

Dolichyl beta-D-glucosyl phosphate + D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate.

Pathway

Protein modification; protein glycosylation.

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein Potential.

Involvement in disease

Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.7 Ref.8 Ref.9 Ref.11 Ref.12 Ref.14

Sequence similarities

Belongs to the ALG6/ALG8 glucosyltransferase family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 507507Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase
PRO_0000174156

Regions

Transmembrane4 – 2421Helical; Potential
Transmembrane115 – 13521Helical; Potential
Transmembrane144 – 16421Helical; Potential
Transmembrane173 – 19321Helical; Potential
Transmembrane227 – 24721Helical; Potential
Transmembrane298 – 31821Helical; Potential
Transmembrane324 – 34421Helical; Potential
Transmembrane362 – 38221Helical; Potential
Transmembrane388 – 40821Helical; Potential
Transmembrane438 – 45821Helical; Potential
Transmembrane473 – 49321Helical; Potential

Natural variations

Natural variant1311Y → H in CDG1C. Ref.7 Ref.14
Corresponds to variant rs35383149 [ dbSNP | Ensembl ].
VAR_022511
Natural variant1701S → I in CDG1C. Ref.11
VAR_022512
Natural variant2261K → N.
Corresponds to variant rs35604168 [ dbSNP | Ensembl ].
VAR_055493
Natural variant2271G → E in CDG1C. Ref.12
VAR_022513
Natural variant2991Missing in CDG1C. Ref.9
VAR_013441
Natural variant3041F → S Common polymorphism; reduces the ability to rescue defective glycosylation of an alg6-deficient strain of S. cerevisiae during rapid growth; may exacerbate the clinical severity of patients with CDG1A. Ref.4 Ref.8 Ref.9 Ref.10 Ref.13
Corresponds to variant rs4630153 [ dbSNP | Ensembl ].
VAR_013442
Natural variant3081S → R in CDG1C. Ref.7
VAR_022514
Natural variant3331A → V in CDG1C. Ref.1 Ref.7 Ref.8
VAR_013443
Natural variant4441Missing in CDG1C. Ref.11
VAR_022515
Natural variant4781S → P in CDG1C. Ref.8
VAR_013444

Experimental info

Sequence conflict1111F → L in AAG43163. Ref.2
Sequence conflict3741T → P in AAG43163. Ref.2
Sequence conflict3941T → P in AAG43163. Ref.2
Sequence conflict4571T → A in AAG43163. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q9Y672 [UniParc].

Last modified November 1, 1999. Version 1.
Checksum: 6558E0A318597D03

FASTA50758,181
        10         20         30         40         50         60 
MEKWYLMTVV VLIGLTVRWT VSLNSYSGAG KPPMFGDYEA QRHWQEITFN LPVKQWYFNS 

        70         80         90        100        110        120 
SDNNLQYWGL DYPPLTAYHS LLCAYVAKFI NPDWIALHTS RGYESQAHKL FMRTTVLIAD 

       130        140        150        160        170        180 
LLIYIPAVVL YCCCLKEIST KKKIANALCI LLYPGLILID YGHFQYNSVS LGFALWGVLG 

       190        200        210        220        230        240 
ISCDCDLLGS LAFCLAINYK QMELYHALPF FCFLLGKCFK KGLKGKGFVL LVKLACIVVA 

       250        260        270        280        290        300 
SFVLCWLPFF TEREQTLQVL RRLFPVDRGL FEDKVANIWC SFNVFLKIKD ILPRHIQLIM 

       310        320        330        340        350        360 
SFCFTFLSLL PACIKLILQP SSKGFKFTLV SCALSFFLFS FQVHEKSILL VSLPVCLVLS 

       370        380        390        400        410        420 
EIPFMSTWFL LVSTFSMLPL LLKDELLMPS VVTTMAFFIA CVTSFSIFEK TSEEELQLKS 

       430        440        450        460        470        480 
FSISVRKYLP CFTFLSRIIQ YLFLISVITM VLLTLMTVTL DPPQKLPDLF SVLVCFVSCL 

       490        500 
NFLFFLVYFN IIIMWDSKSG RNQKKIS 

« Hide

References

« Hide 'large scale' references
[1]"A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic."
Imbach T., Burda P., Kuhnert P., Wevers R.A., Aebi M., Berger E.G., Hennet T.
Proc. Natl. Acad. Sci. U.S.A. 96:6982-6987(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CDG1C VAL-333.
[2]Mao Y.M., Xie Y., Zheng Z.H.
Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Fetal brain.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT SER-304.
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Placenta.
[7]"Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation."
Westphal V., Murch S., Kim S., Srikrishna G., Winchester B., Day R., Freeze H.H.
Am. J. Pathol. 157:1917-1925(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CDG1C HIS-131; ARG-308 AND VAL-333.
[8]"Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic."
Imbach T., Gruenewald S., Schenk B., Burda P., Schollen E., Wevers R.A., Jaeken J., de Klerk J.B.C., Berger E.G., Matthijs G., Aebi M., Hennet T.
Hum. Genet. 106:538-545(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CDG1C VAL-333 AND PRO-478, VARIANT SER-304.
[9]"Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic."
Westphal V., Schottstaedt C., Marquardt T., Freeze H.H.
Mol. Genet. Metab. 70:219-223(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CDG1C ILE-299 DEL, VARIANT SER-304.
[10]"The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic."
Vuillaumier-Barrot S., Le Bizec C., Durand G., Seta N.
J. Hum. Genet. 46:547-548(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SER-304.
[11]"A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases."
de Lonlay P., Seta N., Barrot S., Chabrol B., Drouin V., Gabriel B.M., Journel H., Kretz M., Laurent J., Le Merrer M., Leroy A., Pedespan D., Sarda P., Villeneuve N., Schmitz J., van Schaftingen E., Matthijs G., Jaeken J. expand/collapse author list , Koerner C., Munnich A., Saudubray J.-M., Cormier-Daire V.
J. Med. Genet. 38:14-19(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CDG1C ILE-170 AND LEU-444 DEL.
[12]"DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)."
Schollen E., Martens K., Geuzens E., Matthijs G.
Eur. J. Hum. Genet. 10:643-648(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CDG1C GLU-227.
[13]"A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency."
Westphal V., Kjaergaard S., Schollen E., Martens K., Gruenewald S., Schwartz M., Matthijs G., Freeze H.H.
Hum. Mol. Genet. 11:599-604(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANT SER-304.
[14]"Identification of a frequent variant in ALG6, the cause of congenital disorder of glycosylation-Ic."
Westphal V., Xiao M., Kwok P.-Y., Freeze H.H.
Hum. Mutat. 22:420-421(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CDG1C HIS-131.
+Additional computationally mapped references.

Web resources

GeneReviews
GGDB

GlycoGene database

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF102851 mRNA. Translation: AAD41466.1.
AF063604 mRNA. Translation: AAG43163.1.
AK022700 mRNA. Translation: BAG51104.1.
AL592218, AL049636 Genomic DNA. Translation: CAI18961.1.
AL049636, AL592218 Genomic DNA. Translation: CAI22829.1.
CH471059 Genomic DNA. Translation: EAX06571.1.
BC001253 mRNA. Translation: AAH01253.1.
RefSeqNP_037471.2. NM_013339.3.
UniGeneHs.258501.

3D structure databases

ProteinModelPortalQ9Y672.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000360149.

Protein family/group databases

CAZyGT57. Glycosyltransferase Family 57.

PTM databases

PhosphoSiteQ9Y672.

Polymorphism databases

DMDM21263380.

Proteomic databases

PaxDbQ9Y672.
PRIDEQ9Y672.

Protocols and materials databases

DNASU29929.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000371108; ENSP00000360149; ENSG00000088035.
GeneID29929.
KEGGhsa:29929.
UCSCuc021oof.1. human.

Organism-specific databases

CTD29929.
GeneCardsGC01P063834.
H-InvDBHIX0000661.
HGNCHGNC:23157. ALG6.
MIM603147. phenotype.
604566. gene.
neXtProtNX_Q9Y672.
Orphanet79320. ALG6-CDG.
PharmGKBPA134925619.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG287760.
HOGENOMHOG000195048.
HOVERGENHBG024331.
KOK03848.
OrthoDBEOG70088D.
PhylomeDBQ9Y672.
TreeFamTF314522.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.
UniPathwayUPA00378.

Gene expression databases

ArrayExpressQ9Y672.
BgeeQ9Y672.
CleanExHS_ALG6.
GenevestigatorQ9Y672.

Family and domain databases

InterProIPR004856. Glyco_trans_ALG6/ALG8.
[Graphical view]
PANTHERPTHR12413. PTHR12413. 1 hit.
PfamPF03155. Alg6_Alg8. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSALG6. human.
GeneWikiALG6.
GenomeRNAi29929.
NextBio52559.
PROQ9Y672.
SOURCESearch...

Entry information

Entry nameALG6_HUMAN
AccessionPrimary (citable) accession number: Q9Y672
Secondary accession number(s): B3KMU2, Q5SXR9, Q9H3I0
Entry history
Integrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: November 1, 1999
Last modified: April 16, 2014
This is version 128 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM